Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
3008
Gene name Gene Name - the full gene name approved by the HGNC.
H1.4 linker histone, cluster member
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
H1-4
Synonyms (NCBI Gene) Gene synonyms aliases
H1.4, H1E, H1F4, H1s-4, HIST1H1E, RMNS, dJ221C16.5
Chromosome Chromosome number
6
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
6p22.2
Summary Summary of gene provided in NCBI Entrez Gene.
Histones are basic nuclear proteins responsible for nucleosome structure of the chromosomal fiber in eukaryotes. Two molecules of each of the four core histones (H2A, H2B, H3, and H4) form an octamer, around which approximately 146 bp of DNA is wrapped in
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0000122 Process Negative regulation of transcription by RNA polymerase II IEA
GO:0000785 Component Chromatin IEA
GO:0000786 Component Nucleosome IEA
GO:0000791 Component Euchromatin IBA
GO:0000792 Component Heterochromatin IDA 15911621
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
142220 4718 ENSG00000168298
Protein
UniProt ID P10412
Protein name Histone H1.4 (Histone H1b) (Histone H1s-4)
Protein function Histone H1 protein binds to linker DNA between nucleosomes forming the macromolecular structure known as the chromatin fiber. Histones H1 are necessary for the condensation of nucleosome chains into higher-order structured fibers. Also acts as a
PDB 3TZD , 5JJZ , 6H8P , 7K5Y , 7K63 , 7PET , 7PEU , 7PEX , 7PEZ , 7PF0 , 7PF2 , 7PF3 , 7PF5 , 7PF6 , 7PFA , 7PFC , 7PFD , 7PFE , 7PFT , 7PFU , 7PFV , 7PFW , 7PFX , 8H1T , 8VG2 , 9DDE
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00538 Linker_histone 37 108 linker histone H1 and H5 family Domain
Sequence
MSETAPAAPAAPAPAEKTPVKKKARKSAGAAKRKASGPPVSELITKAVAASKERSGVSLA
ALKKALAAAGYDVEKNNSRIKLGLKSLVSKGTLVQTKGTGASGSFKLN
KKAASGEAKPKA
KKAGAAKAKKPAGAAKKPKKATGAATPKKSAKKTPKKAKKPAAAAGAKKAKSPKKAKAAK
PKKAPKSPAKAKAVKPKAAKPKTAKPKAAKPKKAAAKKK
Sequence length 219
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  Reactome
    Apoptosis induced DNA fragmentation
Formation of Senescence-Associated Heterochromatin Foci (SAHF)
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
RAHMAN SYNDROME rahman syndrome rs1581429431, rs1581429434, rs1581429514, rs1131690805, rs1581429554, rs1131690806, rs1131690807, rs1764194669, rs1554162872, rs1554162894, rs1581429395, rs1581429403 N/A
Auditory neuropathy auditory neuropathy spectrum disorder rs1131690806 N/A
Multiple myeloma multiple myeloma rs951047896 N/A
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Mental retardation syndromic intellectual disability N/A N/A GenCC